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Michael B. Bober
Michael B. Bober
Professor of Pediatrics, Thomas Jefferson University
Bestätigte E-Mail-Adresse bei nemours.org
Titel
Zitiert von
Zitiert von
Jahr
Enzyme-replacement therapy in life-threatening hypophosphatasia
MP Whyte, CR Greenberg, NJ Salman, MB Bober, WH McAlister, ...
New England Journal of Medicine 366 (10), 904-913, 2012
5822012
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
LS Bicknell, EMHF Bongers, A Leitch, S Brown, J Schoots, ME Harley, ...
Nature genetics 43 (4), 356-359, 2011
2702011
Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA
P Edery, C Marcaillou, M Sahbatou, A Labalme, J Chastang, R Touraine, ...
Science 332 (6026), 240-243, 2011
2412011
Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome
LS Bicknell, S Walker, A Klingseisen, T Stiff, A Leitch, C Kerzendorfer, ...
Nature genetics 43 (4), 350-355, 2011
2282011
Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis
CA Martin, JE Murray, P Carroll, A Leitch, KJ Mackenzie, M Halachev, ...
Genes & development 30 (19), 2158-2172, 2016
1192016
Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis
SA De Munnik, LS Bicknell, S Aftimos, JY Al-Aama, Y Van Bever, ...
European Journal of Human Genetics 20 (6), 598-606, 2012
1152012
A unique set of centrosome proteins requires pericentrin for spindle-pole localization and spindle orientation
CT Chen, H Hehnly, Q Yu, D Farkas, G Zheng, SD Redick, HF Hung, ...
Current Biology 24 (19), 2327-2334, 2014
1112014
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
R Savarirayan, L Tofts, M Irving, W Wilcox, CA Bacino, J Hoover-Fong, ...
The Lancet 396 (10252), 684-692, 2020
1092020
GGC repeat expansion and exon 1 methylation of XYLT1 is a common pathogenic variant in Baratela-Scott syndrome
AJ LaCroix, D Stabley, R Sahraoui, MP Adam, M Mehaffey, K Kernan, ...
The American Journal of Human Genetics 104 (1), 35-44, 2019
972019
Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype
MB Bober, N Khan, J Kaplan, K Lewis, JA Feinstein, CI Scott Jr, ...
American Journal of Medical Genetics Part A 152 (4), 960-965, 2010
972010
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
JJ Reynolds, LS Bicknell, P Carroll, MR Higgs, R Shaheen, JE Murray, ...
Nature genetics 49 (4), 537-549, 2017
912017
Extreme growth failure is a common presentation of ligase IV deficiency
JE Murray, LS Bicknell, G Yigit, AL Duker, M van Kogelenberg, ...
Human mutation 35 (1), 76-85, 2014
912014
TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism
ME Harley, O Murina, A Leitch, MR Higgs, LS Bicknell, G Yigit, ...
Nature genetics 48 (1), 36-43, 2016
872016
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene
SW Tompson, CA Bacino, NP Safina, MB Bober, VK Proud, T Funari, ...
The American Journal of Human Genetics 87 (5), 708-712, 2010
872010
Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome
S Tomatsu, K Sawamoto, CJ Almeciga-Diaz, T Shimada, MB Bober, ...
Drug design, development and therapy, 1937-1953, 2015
852015
DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency
CV Logan, JE Murray, DA Parry, A Robertson, R Bellelli, Ž Tarnauskaitė, ...
The American Journal of Human Genetics 103 (6), 1038-1044, 2018
802018
Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy
KK White, V Bompadre, MJ Goldberg, MB Bober, JW Campbell, TJ Cho, ...
American journal of medical genetics Part A 170 (1), 42-51, 2016
772016
A cross‐sectional multicenter study of osteogenesis imperfecta in North America–results from the linked clinical research centers
RM Patel, SCS Nagamani, D Cuthbertson, PM Campeau, JP Krischer, ...
Clinical genetics 87 (2), 133-140, 2015
762015
Obstructive airway in Morquio A syndrome, the past, the present and the future
S Tomatsu, LW Averill, K Sawamoto, WG Mackenzie, MB Bober, C Pizarro, ...
Molecular genetics and metabolism 117 (2), 150-156, 2016
732016
Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes
I Huang-Doran, LS Bicknell, FM Finucane, N Rocha, KM Porter, YCL Tung, ...
Diabetes 60 (3), 925-935, 2011
712011
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